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Aliases for ETFDH Gene

Aliases for ETFDH Gene

  • Electron Transfer Flavoprotein Dehydrogenase 2 3 5
  • Electron-Transferring-Flavoprotein Dehydrogenase 2 3 4
  • ETF-Ubiquinone Oxidoreductase 3 4
  • ETF Dehydrogenase 3 4
  • ETF-QO 3 4
  • Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase, Mitochondrial 3
  • EC 1.5.5.1 4
  • ETFQO 3
  • MADD 3

External Ids for ETFDH Gene

Previous GeneCards Identifiers for ETFDH Gene

  • GC04P160443
  • GC04P160022
  • GC04P160171
  • GC04P160145
  • GC04P159951
  • GC04P159812
  • GC04P159593
  • GC04P155343

Summaries for ETFDH Gene

Entrez Gene Summary for ETFDH Gene

  • This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

GeneCards Summary for ETFDH Gene

ETFDH (Electron Transfer Flavoprotein Dehydrogenase) is a Protein Coding gene. Diseases associated with ETFDH include Multiple Acyl-Coa Dehydrogenase Deficiency and Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for ETFDH Gene

  • Accepts electrons from ETF and reduces ubiquinone.

Gene Wiki entry for ETFDH Gene

Additional gene information for ETFDH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFDH Gene

Genomics for ETFDH Gene

GeneHancer (GH) Regulatory Elements for ETFDH Gene

Promoters and enhancers for ETFDH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J158670 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 650.7 -0.2 -200 3.3 MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 C4orf46 ETFDH PPID GC04P158665
GH04J158721 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 31.3 +50.9 50888 2.7 PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PPID ETFDH FNIP2 ENSG00000271817
GH04J158663 Enhancer 1.1 Ensembl ENCODE 31.1 -8.2 -8151 1.5 HDAC1 HDGF PKNOX1 ATF1 ARNT NFRKB NFXL1 ZBTB40 CHAMP1 ZNF280A GC04P158665 ETFDH GC04P158622
GH04J158540 Enhancer 1.1 FANTOM5 Ensembl ENCODE 28.9 -130.5 -130538 3.9 JUN TAL1 BATF FOSL1 ZNF316 NFE2 MAFK RUNX3 STAT1 RFX1 ETFDH FNIP2 PPID ENSG00000249901 GC04P158622 RXFP1
GH04J158808 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +139.7 139729 7.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 FEZF1 YBX1 ZNF2 IRF4 YY1 FNIP2 PPID ETFDH C4orf46 RAPGEF2 GC04M158795 RNU6-128P GC04P158864
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ETFDH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ETFDH gene promoter:
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1
  • GATA-2
  • Gfi-1

Genomic Locations for ETFDH Gene

Genomic Locations for ETFDH Gene
chr4:158,672,101-158,709,623
(GRCh38/hg38)
Size:
37,523 bases
Orientation:
Plus strand
chr4:159,593,277-159,630,775
(GRCh37/hg19)
Size:
37,499 bases
Orientation:
Plus strand

Genomic View for ETFDH Gene

Genes around ETFDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETFDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETFDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETFDH Gene

Proteins for ETFDH Gene

  • Protein details for ETFDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16134-ETFD_HUMAN
    Recommended name:
    Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
    Protein Accession:
    Q16134
    Secondary Accessions:
    • B4E3R9
    • J3KND9
    • Q7Z347

    Protein attributes for ETFDH Gene

    Size:
    617 amino acids
    Molecular mass:
    68495 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=CAD98030.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for ETFDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFDH Gene

Post-translational modifications for ETFDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETFDH Gene

No data available for DME Specific Peptides for ETFDH Gene

Domains & Families for ETFDH Gene

Gene Families for ETFDH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q16134

UniProtKB/Swiss-Prot:

ETFD_HUMAN :
  • Belongs to the ETF-QO/FixC family.
Family:
  • Belongs to the ETF-QO/FixC family.
genes like me logo Genes that share domains with ETFDH: view

Function for ETFDH Gene

Molecular function for ETFDH Gene

UniProtKB/Swiss-Prot Function:
Accepts electrons from ETF and reduces ubiquinone.
UniProtKB/Swiss-Prot CatalyticActivity:
Reduced electron-transferring flavoprotein + ubiquinone = electron-transferring flavoprotein + ubiquinol.
GENATLAS Biochemistry:
electron transfer flavoprotein-ubiquinone reductase,inner mitochondrial membrane,oxidative phosphorylation (OXPHOS)

Enzyme Numbers (IUBMB) for ETFDH Gene

Phenotypes From GWAS Catalog for ETFDH Gene

Gene Ontology (GO) - Molecular Function for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004174 electron-transferring-flavoprotein dehydrogenase activity TAS --
GO:0009055 electron transfer activity IDA 8306995
GO:0016491 oxidoreductase activity IDA 14640977
GO:0043783 oxidoreductase activity, oxidizing metal ions with flavin as acceptor ISS,IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ETFDH: view
genes like me logo Genes that share phenotypes with ETFDH: view

Human Phenotype Ontology for ETFDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ETFDH Gene

MGI Knock Outs for ETFDH:
  • Etfdh Etfdh<tm1b(EUCOMM)Hmgu>

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ETFDH Gene

Localization for ETFDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFDH Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETFDH gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ETFDH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ETFDH Gene

Pathways & Interactions for ETFDH Gene

genes like me logo Genes that share pathways with ETFDH: view

Gene Ontology (GO) - Biological Process for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress ISS --
GO:0022900 electron transport chain IDA 8306995
GO:0022904 respiratory electron transport chain TAS,IBA --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP 17412732
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ETFDH: view

No data available for SIGNOR curated interactions for ETFDH Gene

Drugs & Compounds for ETFDH Gene

(12) Drugs for ETFDH Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 387
FAD Approved Pharma 0
Coenzyme Q10 Approved, Investigational Nutra 129
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
Ubiquinone-1 Experimental Pharma 0

(13) Additional Compounds for ETFDH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with ETFDH: view

Transcripts for ETFDH Gene

Unigene Clusters for ETFDH Gene

Electron-transferring-flavoprotein dehydrogenase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ETFDH Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - -
SP4: -
SP5: - - - -
SP6:
SP7:
SP8: - - -

ExUns: 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ETFDH Gene

GeneLoc Exon Structure for
ETFDH
ECgene alternative splicing isoforms for
ETFDH

Expression for ETFDH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ETFDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETFDH Gene

This gene is overexpressed in Heart - Left Ventricle (x6.4) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for ETFDH Gene

This gene is overexpressed in Heart (13.7), Nasal epithelium (11.9), and Liver (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ETFDH Gene



Protein tissue co-expression partners for ETFDH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ETFDH Gene:

ETFDH

SOURCE GeneReport for Unigene cluster for ETFDH Gene:

Hs.155729

Evidence on tissue expression from TISSUES for ETFDH Gene

  • Liver(4.5)
  • Intestine(4.2)
  • Lung(4.2)
  • Muscle(2.9)
  • Nervous system(2.9)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ETFDH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • stomach
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ETFDH: view

No data available for mRNA Expression by UniProt/SwissProt for ETFDH Gene

Orthologs for ETFDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETFDH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETFDH 34 33
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ETFDH 34 33
  • 92.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etfdh 33
  • 89.66 (n)
mouse
(Mus musculus)
Mammalia Etfdh 16 34 33
  • 88.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ETFDH 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETFDH 34 33
  • 86.71 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ETFDH 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETFDH 34 33
  • 78.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETFDH 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etfdh 33
  • 76.04 (n)
Str.5283 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19071 33
zebrafish
(Danio rerio)
Actinopterygii etfdh 34 33
  • 71.66 (n)
OneToOne
wufa05a11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4011 33
fruit fly
(Drosophila melanogaster)
Insecta CG12140 34 35
  • 66 (a)
OneToOne
Etf-QO 33
  • 60.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005894 33
  • 60.76 (n)
worm
(Caenorhabditis elegans)
Secernentea let-721 34 35 33
  • 62 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12991g 33
  • 57.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIR2 36 34 33
  • 57.07 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR387W 33
  • 53.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ETFQO 33
  • 57.89 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7097 33
rice
(Oryza sativa)
Liliopsida Os10g0516300 33
  • 59.55 (n)
Os.15767 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5971 34
  • 70 (a)
OneToOne
Cin.13772 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC20G8.04c 33
  • 57.83 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04768 33
  • 54.07 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13772 33
Species where no ortholog for ETFDH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ETFDH Gene

ENSEMBL:
Gene Tree for ETFDH (if available)
TreeFam:
Gene Tree for ETFDH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETFDH: view image

Paralogs for ETFDH Gene

No data available for Paralogs for ETFDH Gene

Variants for ETFDH Gene

Sequence variations from dbSNP and Humsavar for ETFDH Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs113981461 likely-benign, Glutaric aciduria, type 2 158,672,218(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs11559290 benign, not specified, Glutaric aciduria, type 2 158,680,524(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
rs11931339 benign, likely-benign, not specified, Glutaric aciduria, type 2 158,706,865(+) C/G/T intron_variant
rs121964953 pathogenic, Glutaric acidemia IIC 158,672,458(+) T/C genic_upstream_transcript_variant, initiator_codon_variant, missense_variant
rs121964954 pathogenic, Glutaric acidemia IIC, not provided, Glutaric aciduria, type 2, Glutaric aciduria 2C (GA2C) [MIM:231680] 158,682,269(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ETFDH Gene

Variant ID Type Subtype PubMed ID
nsv830125 CNV gain 17160897

Variation tolerance for ETFDH Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETFDH Gene

Human Gene Mutation Database (HGMD)
ETFDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETFDH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETFDH Gene

Disorders for ETFDH Gene

MalaCards: The human disease database

(9) MalaCards diseases for ETFDH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

ETFD_HUMAN
  • Glutaric aciduria 2C (GA2C) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. {ECO:0000269 PubMed:12359134, ECO:0000269 PubMed:12815589, ECO:0000269 PubMed:16527485, ECO:0000269 PubMed:17412732, ECO:0000269 PubMed:19249206, ECO:0000269 PubMed:20370797}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ETFDH Gene

glutaric acidemia,type II

Additional Disease Information for ETFDH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ETFDH: view

Publications for ETFDH Gene

  1. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. (PMID: 20370797) Lan MY … Chen SS (Clinical genetics 2010) 3 4 44 58
  2. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PMID: 19249206) Liang WC … Nishino I (Neuromuscular disorders : NMD 2009) 3 4 22 58
  3. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. (PMID: 17412732) Gempel K … Horvath R (Brain : a journal of neurology 2007) 3 4 22 58
  4. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PMID: 12815589) Olsen RK … Gregersen N (Human mutation 2003) 3 4 22 58
  5. Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. (PMID: 8306995) Goodman SI … Frerman FE (European journal of biochemistry 1994) 3 4 22 58

Products for ETFDH Gene

Sources for ETFDH Gene

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